Objective: Purpose of the study was to improve the understanding on genetic basis of movement disorders and use of this information for protective measurements like carrier screening and prenatal diagnosis for movement disorders.

Background: Movement disorders refer to a group of neurological conditions that causes abnormal increased or reduced movements, which may be voluntary or involuntary e.g Ataxia, Parkinsonism and neurodegenerative diseases etc.

Method: Two large consanguineous Pashtoon families with autosomal recessive Neurodegenerative disorders (ND7 and ND9) having multiple affected births were sampled from two different geographical regions of Khyber Pakhtunkhwa, Pakistan. Detailed clinical examination was made for two probands, one from each family and showed phenotypes of ND and intellectual disabilities (ID). Both families were subjected to STS (Single tagged sequence) marker analyses for mapping of homozygosity in known genes and known loci regions using a fluorescence three primer method. Both families showed exclusion for all known genes and loci regions. Further two central loops, one of each family were subjected to Genome wide scanning using SNP6.0 array for detection of homozygous regions.

Results: No linkage with the already reported loci and genes was observed during STS marker analysis. Genome wide scanning showed astonishing results; three candidate homozygous regions were observed for ND 7 while four were observed for ND9.   Interestingly, out of these candidate homozygous regions, one on chromosome 11 (chr11: 66,162,090 – 67,419,053) was observed for both families indicating resemblance in their genetic architecture.

Conclusion: Identification of same candidate homozygous region for both families sampled from geographically two different regions shows closeness in genetic pattern of the disease in both families. This clearly indicates the effect of consanguinity and same Pashtoon ethnic group of the same ancestors. Advanced molecular analysis of the shared homozygous region of these two families can result in potential findings for disease cause in the families.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/genetic-architecture-of-movement-disorder-and-its-association-with-consanguinity-in-pashtoon-population/